{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA82398978",
  "communityStandardTitle": [
    "NM_001146156.2(GSK3B):c.477+778T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.119641442A>G?assembly=hg19",
        "id": "chr3:g.119641442A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.119922595A>G?assembly=hg38",
        "id": "chr3:g.119922595A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7431209",
        "rs": 7431209
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-119641442-A-G?dataset=gnomad_r2_1",
        "id": "3-119641442-A-G",
        "variant": "3:119641442 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-119922595-A-G?dataset=gnomad_r3",
        "id": "3-119922595-A-G",
        "variant": "3:119922595 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-119922595-A-G?dataset=gnomad_r4",
        "id": "3-119922595-A-G",
        "variant": "3:119922595 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 119922595,
          "referenceAllele": "A",
          "start": 119922594
        }
      ],
      "hgvs": [
        "NC_000003.12:g.119922595A>G",
        "CM000665.2:g.119922595A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 119641442,
          "referenceAllele": "A",
          "start": 119641441
        }
      ],
      "hgvs": [
        "NC_000003.11:g.119641442A>G",
        "CM000665.1:g.119641442A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 121124132,
          "referenceAllele": "A",
          "start": 121124131
        }
      ],
      "hgvs": [
        "NC_000003.10:g.121124132A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 176823,
          "referenceAllele": "T",
          "start": 176822
        }
      ],
      "hgvs": [
        "NG_012922.1:g.176823T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002619"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 1490,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000264235.13:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264235.9:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742643",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264235.13:c.477+778T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001146156.2:c.477+778T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264235.9:n.477+778T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001139628.1:n.477+778T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 709,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000316626.6:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324806.5:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000650344.2:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497956.2:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 303,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000676566.1:n.303+778T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000676723.1:n.111+778T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776398"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 515,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 515,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000677169.1:c.*154+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503107.1:n.*154+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 260,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000677502.1:n.260+778T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777164"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 946,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 946,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000677788.1:n.946+778T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000677804.1:n.111+778T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 84,
          "endIntronDirection": "-",
          "endIntronOffset": 6420,
          "referenceAllele": "T",
          "start": 84,
          "startIntronDirection": "-",
          "startIntronOffset": 6421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000677885.1:c.85-6421T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504148.1:n.85-6421T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 24673,
          "referenceAllele": "T",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 24672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000678181.1:c.84+24673T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504266.1:n.84+24673T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 934,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 934,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000678245.1:n.934+778T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 940,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 940,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000678439.1:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503868.1:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 150,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 150,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000678561.1:c.150+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503494.1:n.150+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "endIntronDirection": "-",
          "endIntronOffset": 46086,
          "referenceAllele": "T",
          "start": 194,
          "startIntronDirection": "-",
          "startIntronOffset": 46087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000678787.1:c.195-46087T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 24673,
          "referenceAllele": "T",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 24672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000679066.1:c.84+24673T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503626.1:n.84+24673T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000679188.1:c.111+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504252.1:n.111+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778823"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 1460,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000264235.12:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264235.8:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 709,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "ENST00000316626.5:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324806.5:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 1460,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_001146156.1:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139628.1:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 1460,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_002093.3:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002084.2:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 935,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 935,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "XM_006713610.1:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713673.1:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 935,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 935,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "XM_006713611.1:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713674.1:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 1460,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_001354596.1:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341525.1:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 833,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 833,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "XM_006713610.3:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713673.1:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 1490,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_001146156.2:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139628.1:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264235.13:c.477+778T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001146156.2:c.477+778T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264235.9:n.477+778T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001139628.1:n.477+778T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 1490,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_001354596.2:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341525.1:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1490,
          "endIntronDirection": "+",
          "endIntronOffset": 778,
          "referenceAllele": "T",
          "start": 1490,
          "startIntronDirection": "+",
          "startIntronOffset": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004617",
      "geneNCBI_id": 2932,
      "geneSymbol": "GSK3B",
      "hgvs": [
        "NM_002093.4:c.477+778T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002084.2:n.477+778T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695453"
    }
  ],
  "type": "nucleotide"
}